Hepatomegaly, and Infertility

Diseases related with Hepatomegaly and Infertility

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Infertility that can help you solving undiagnosed cases.

Top matches:

Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3|fpld3|pparg-related fpld|lipodystrophy, familial partial, associated with pparg mutations

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

High match CYSTIC FIBROSIS

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

CYSTIC FIBROSIS Is also known as mucoviscidosis|cf

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTIC FIBROSIS

Other less relevant matches:

Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

High match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

High match WILSON DISEASE

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

High match NOONAN SYNDROME

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

High match ALSTRÖM SYNDROME

Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Infertility

Symptoms // Phenotype % cases
Diabetes mellitus Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Delayed puberty Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Infertility. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Cirrhosis

Uncommon Symptoms - Between 30% and 50% cases

Hepatosplenomegaly Hypogonadism Insulin resistance Congestive heart failure Vomiting Hypertension Intellectual disability Short stature Epidermal acanthosis Hepatic steatosis Neoplasm Pain Insulin-resistant diabetes mellitus Myalgia Acanthosis nigricans Pancreatitis Abnormality of the liver Depressivity Elevated hepatic transaminase Abdominal pain Nausea Abdominal distention Cardiomyopathy Scoliosis Hyperuricemia Constipation Pigmentary retinopathy Prominent superficial veins Decreased HDL cholesterol concentration Muscle weakness Feeding difficulties Glycosuria Hypertelorism Strabismus Male infertility Pulmonary fibrosis Hyperglycemia Dilatation Fatigue Dysarthria Gastroesophageal reflux Nephrocalcinosis Increased body weight Recurrent pneumonia Cough Postnatal growth retardation Polycystic ovaries Hyperinsulinemia Hypertriglyceridemia Arthritis Cataract Hypogonadotrophic hypogonadism Portal hypertension Frontal bossing Dysphagia Blindness Renal insufficiency Lipodystrophy Myopathy Hypertrophic cardiomyopathy Hirsutism Ascites Atherosclerosis Proteinuria Generalized hirsutism Retinopathy Dehydration

Rare Symptoms - Less than 30% cases

Polyuria Progressive neurologic deterioration Edema Acute pancreatitis Hyperlipidemia Glomerulopathy Cognitive impairment Stage 5 chronic kidney disease Spontaneous abortion Abnormality of the nervous system Round face Broad forehead Abnormality of the menstrual cycle Fever Motor delay Photophobia Nephrolithiasis High palate Confusion Cerebral atrophy Muscular hypotonia Failure to thrive in infancy Delayed skeletal maturation Hypothyroidism Polydipsia Generalized hypotonia Male hypogonadism Oral-pharyngeal dysphagia Abnormal facial shape Bruising susceptibility Triangular face Posterior subcapsular cataract Pallor Nyctalopia Lymphadenopathy Retinal dystrophy Gastrointestinal hemorrhage Optic disc pallor Subcapsular cataract Peripheral visual field loss Poor coordination Chills Rod-cone dystrophy Thoracic scoliosis Hearing impairment Nystagmus Sensorineural hearing impairment Short neck Clinodactyly Patent ductus arteriosus Kyphoscoliosis Sparse hair Pulmonic stenosis Hyperhidrosis Pneumonia Growth hormone deficiency Joint hypermobility Cyanosis Type II diabetes mellitus Pericarditis Myocardial fibrosis Peripheral neuropathy Dystonia Thrombocytopenia Weight loss Arthralgia Jaundice Hepatic failure Ataxia High forehead Hepatitis Involuntary movements Decreased liver function Abnormality of the hand Acute hepatic failure Esophageal varix Menstrual irregularities Seizures Global developmental delay Papule Otitis media Pectus excavatum Intestinal obstruction Tachypnea Aplasia/Hypoplasia of the skin Lipoatrophy Hypercalciuria Reduced subcutaneous adipose tissue Coronary artery atherosclerosis Emphysema Secondary amenorrhea Skeletal muscle hypertrophy Bronchitis Thin skin Exocrine pancreatic insufficiency Myocardial infarction Chronic obstructive pulmonary disease Sinusitis Oligomenorrhea Arthropathy Recurrent respiratory infections Abnormality of skeletal muscle fiber size Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Obesity Respiratory distress Diarrhea Respiratory failure Maternal diabetes Hyperlipoproteinemia Xanthomatosis Respiratory tract infection Scarring Preeclampsia Asthma Decreased antibody level in blood Chronic infection Eclampsia Azoospermia Hyperpigmentation of the skin Arrhythmia Osteoporosis Micrognathia Skeletal muscle atrophy Dilated cardiomyopathy Amenorrhea Amegakaryocytic thrombocytopenia Morphological abnormality of the inner ear Reduced factor VIII activity Aplasia of the semicircular canal Decreased body weight Hypoplasia of lymphatic vessels Abnormal location of ears Granular macular appearance Puberty and gonadal disorders Neurofibrosarcoma Amblyopia Pulmonary lymphangiectasia Abnormal platelet function Scapular winging Prominent nasolabial fold Abnormality of the genital system Superior pectus carinatum Hyperkeratosis pilaris Lymphedema Cafe-au-lait spot Aortic valve stenosis Reduced factor XII activity Reduced factor XI activity Abnormal nipple morphology Localized hirsutism Abnormal anterior segment morphology Visual loss Hyperostosis frontalis interna Mitral valve prolapse Dyspnea Autism Hyperkeratosis Polydactyly Coarctation of aorta Low posterior hairline Thick lower lip vermilion Myoclonus Alopecia Hyporeflexia Encephalopathy Abnormal dermatoglyphics Kyphosis Behavioral abnormality Receptive language delay Abnormality of the dentition Mitral regurgitation Respiratory insufficiency Optic atrophy Visual impairment Delayed speech and language development Abnormality of the vestibular nerve Prominent digit pad Aplasia of lymphatic vessels Abnormal atrial septum morphology Abnormal lymphatic vessel morphology Thickened ears Arnold-Chiari malformation Abnormality of the testis Prolonged bleeding time Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the spleen Redundant neck skin Elevated circulating follicle stimulating hormone level Widely-spaced incisors Abnormality of refraction Abnormality of the helix Abnormal retinal artery morphology Precocious puberty in females EEG with occipital slowing High anterior hairline Shield chest Premature skin wrinkling Acute leukemia Abnormality of prothrombin Thickened nuchal skin fold Abnormality of the mouth Pulmonary artery stenosis Atrioventricular canal defect Acute lymphoblastic leukemia Aortic root aneurysm Abnormality of renal calyx morphology Curly hair Abnormality of digit Cystic hygroma Thickened helices Elevated circulating luteinizing hormone level Coarse hair Myopathic facies Abnormal pulmonary valve morphology Prominent fingertip pads Vitreous haze Abnormality of the urinary system Radioulnar synostosis Bilateral ptosis Abnormality of the thorax Pleural effusion Dilatation of the bladder Melanocytic nevus Unilateral ptosis Cubitus valgus Intestinal lymphangiectasia Myeloproliferative disorder Abnormality of the mandible Pes planus Abnormality of coagulation Prolonged QRS complex Multiple lentigines Abnormality of the lymphatic system Glue ear Chylothorax Synovitis Recurrent cystitis Abnormal hair quantity Enlarged thorax Abnormality of the pulmonary artery Unilateral breast hypoplasia Ophthalmoplegia Deeply set eye Urethral stricture Abnormality of the optic disc Decreased glomerular filtration rate Abnormal spermatogenesis Abnormality of the urethra Lumbar scoliosis Tubulointerstitial nephritis Abnormality of dental color Epigastric pain Pendular nystagmus Gingivitis Ketoacidosis Broad foot Hyperventilation Abnormal chorioretinal morphology Impaired temperature sensation Melena Renovascular hypertension Polyphagia Squared iliac bones Short finger Agenesis of permanent teeth Progressive sensorineural hearing impairment Increased number of teeth Albuminuria Alopecia of scalp Autoimmune thrombocytopenia Severe sensorineural hearing impairment Hypoventilation Abnormal muscle tone Female hypogonadism Retinal atrophy First degree atrioventricular block Hematemesis Tetralogy of Fallot Arteriosclerosis Multinodular goiter Abnormal renal physiology Abnormal left ventricle morphology Testicular atrophy Tubulointerstitial fibrosis Elevated C-reactive protein level Abnormality of female external genitalia Disinhibition Urinary retention Poor fine motor coordination Pyelonephritis Hepatic encephalopathy Achromatopsia Urethral stenosis Bull's eye maculopathy Retinal pigment epithelial atrophy Frontal balding Tubular atrophy Increased total bilirubin Vertical nystagmus Attenuation of retinal blood vessels Right ventricular hypertrophy Elevated serum creatinine Recurrent bronchitis Myocarditis Endocardial fibroelastosis Oligospermia Chronic fatigue Restrictive cardiomyopathy High-frequency hearing impairment Ovarian cyst Abnormal renal morphology Chorioretinal atrophy Abnormal retinal morphology Conductive hearing impairment Sleep disturbance Anorexia Chronic diarrhea High-frequency sensorineural hearing impairment Thickened skin Left ventricular hypertrophy Recurrent urinary tract infections Recurrent otitis media Pulmonary arterial hypertension Cardiomegaly Specific learning disability Progressive visual loss Decreased testicular size Urinary incontinence Vesicoureteral reflux Nephropathy Hepatic fibrosis Hypermetropia Chronic active hepatitis Abnormality of the kidney Irritability Autistic behavior Generalized tonic-clonic seizures Hypotrichosis Carious teeth Increased circulating androgen level Dry skin Retinal degeneration Abnormal adipose tissue morphology Nonproductive cough Tachycardia Exudative retinopathy Abnormality of retinal pigmentation Gynecomastia Truncal obesity Urethral obstruction Aplasia/Hypoplasia of the cerebellum Chronic hepatic failure Constriction of peripheral visual field Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Impaired vibratory sensation Chronic otitis media Acne Hyperostosis Diabetes insipidus Glucose intolerance Hydroureter Urinary urgency Obsessive-compulsive behavior Nephritis Short toe Macular degeneration Hypergonadotropic hypogonadism Horizontal nystagmus Absence seizures Childhood-onset truncal obesity Multifocal atrial tachycardia Accelerated skeletal maturation Hypercholesterolemia Precocious puberty Cone/cone-rod dystrophy Goiter ST segment depression Cholelithiasis Facial hirsutism Elevated alkaline phosphatase Pericardial effusion Acute hepatitis Wide intermamillary distance Labial pseudohypertrophy Hypopigmentation of hair Hyponatremia Rickets Metaphyseal widening Chronic kidney disease Hypohidrosis Cerebral calcification Memory impairment Generalized muscle weakness Hypopigmentation of the skin Abnormality of skin pigmentation Genu valgum Increased intramuscular fat Myelin tomacula Flushing Enlarged peripheral nerve Loss of truncal subcutaneous adipose tissue Sunken cheeks Increased facial adipose tissue Abnormality of complement system Adipose tissue loss Osteopoikilosis Increased intraabdominal fat Increased adipose tissue around the neck Congenital generalized lipodystrophy Absence of subcutaneous fat Generalized lipodystrophy Advanced eruption of teeth Microscopic hematuria Heat intolerance Peripheral arterial stenosis Ventriculomegaly Cachexia Reduced tendon reflexes Pointed chin Dental crowding Overgrowth Nevus Hypodontia Astigmatism Dolichocephaly Small for gestational age Intellectual disability, moderate Severe short stature Hypoplasia of the corpus callosum Macrocephaly Decreased plasma carnitine Intrauterine growth retardation Wide nasal bridge Depressed nasal bridge Elevated intracellular cystine Oral motor hypotonia Episodic metabolic acidosis Rachitic rosary Retinal pigment epithelial mottling Corneal crystals Renal Fanconi syndrome Generalized aminoaciduria Primary hypothyroidism Hypophosphatemic rickets Recurrent corneal erosions Angina pectoris Osteolytic defects of the phalanges of the hand Nephroblastoma Loss of facial adipose tissue Steatorrhea Malnutrition Clubbing Bronchiectasis Abnormal lung morphology Dyskinesia Malabsorption Carcinoma Recurrent infections Immunodeficiency Marked muscular hypertrophy Loss of gluteal subcutaneous adipose tissue Prominent veins on trunk Calf muscle pseudohypertrophy Hemoptysis Abnormality of the neck Abnormality of the musculature Abnormality of the face Primary amenorrhea Abnormality of endocrine pancreas physiology Elevated transferrin saturation Abnormality of the anterior pituitary Abnormality of iron homeostasis Increased serum iron Congenital hepatic fibrosis Increased serum ferritin Generalized hyperpigmentation Impotence Lethargy Wheezing Neoplasm of the pancreas Abnormality of lipid metabolism Obstructive azoospermia Short clavicles Cellulitis Cranial nerve paralysis Abnormality of the nail Thin vermilion border Narrow chest Abnormality of the skeletal system Microscopic nephrocalcinosis Echogenic fetal bowel Cellular metachromasia Biliary tract obstruction Elevated sweat chloride Absent vas deferens Recurrent bronchopulmonary infections Chronic lung disease Meconium ileus Pancreatic adenocarcinoma Productive cough Obstructive lung disease Secretory diarrhea Chronic pancreatitis Nasal polyposis Rectal prolapse Pneumothorax Ileus Biliary cirrhosis Allergy Abnormality of the pancreas Cor pulmonale Premature ovarian insufficiency High pitched voice Webbed neck Urticaria Increased IgA level Recurrent aphthous stomatitis Peritonitis Large forehead Acrocyanosis Uveitis Episodic fever Amyloidosis Colitis Elevated erythrocyte sedimentation rate Hypermelanotic macule Leukocytosis Apathy Purpura Porokeratosis Conjunctivitis Vasculitis Long eyelashes Nephrotic syndrome Eczema Aciduria Migraine Limitation of joint mobility Sepsis Vertigo Skin rash Erythema Headache Neuritis Erysipelas Microcephaly Clinodactyly of the 5th finger Dental malocclusion Abnormal bleeding High, narrow palate Thick vermilion border Joint hyperflexibility Neurological speech impairment Pectus carinatum Feeding difficulties in infancy Low-set, posteriorly rotated ears Hydronephrosis Coarse facial features Polyhydramnios Proptosis Abnormality of cardiovascular system morphology Neutrophilia Midface retrusion Atrial septal defect Talipes equinovarus Ventricular septal defect Downslanted palpebral fissures Myopia Brachydactyly Epicanthus Ptosis Cryptorchidism Pharyngitis Serositis Cervical lymphadenopathy Optic neuritis Flexion contracture Atypical or prolonged hepatitis Slender long bone Rigidity Osteoarthritis Psychosis Coma Polyneuropathy Hemolytic anemia Peripheral axonal neuropathy Paresthesia Poor speech Nausea and vomiting Abnormality of the cerebral white matter Pruritus Aggressive behavior Anxiety Difficulty walking Clumsiness Dementia Tremor Anemia Spasticity Pericardial constriction Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Weak voice Microglossia Scaphocephaly Cholestasis Bone pain Kayser-Fleischer ring Hand tremor Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Hypersexuality Poor motor coordination Hypocupremia Premature osteoarthritis Retinoblastoma Proximal muscle weakness in lower limbs Neoplasm of the liver Hyperphosphaturia Chondrocalcinosis Renal tubular dysfunction Increased reactive oxygen species production Hypoparathyroidism Muscle stiffness Hepatocellular carcinoma Joint swelling Abnormality of blood and blood-forming tissues Osteomalacia Pathologic fracture Global brain atrophy Personality changes Abnormality of mitochondrial metabolism Back pain Schizophrenia Drooling Leukoencephalopathy Leukopenia Aminoaciduria Abnormality of the femoral head


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Hypotrichosis, related diseases and genetic alterations Microphthalmia and Delayed myelination, related diseases and genetic alterations Downslanted palpebral fissures and Single transverse palmar crease, related diseases and genetic alterations Abnormality of the skeletal system and Falls, related diseases and genetic alterations Spasticity and Azoospermia, related diseases and genetic alterations Strabismus and Intellectual disability, profound, related diseases and genetic alterations